Multi-site validation of biomarkers and core clinical outcome measures for clinical trial readiness in CDKL5 Deficiency Disorder
This project is supported by the NIH-NINDS (U01NS114312-01A1).
Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease-modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result in failure of these therapies, not due to lack of efficacy but due to lack of validated outcome measures and biomarkers. The measures and biomarkers validated here will be adaptable to other developmental and epileptic encephalopathies.
Our goals are to:
1) refine and validate appropriate quantitative COMs and biomarkers, and
2) conduct a multi-site clinical trial readiness study to ensure that they can be successfully implemented.